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Cancer Genome Characterization Initiative

Visit the database of genomic characterization data for multiple tumor types.


Gene Info

Gene Information For:Hs. EXT1, Exostosin 1
Sequence ID:NM_000127
RefSeqGene ID:NG_007455
Entrez Gene ID:2131
Ensembl ID:ENSG00000182197

Database Links

UniGeneEntrez GeneOMIMEnsembl GeneHPRDVegaDTPSNPSNP: GeneViewSNP: VarViewAssembliesCancer AberrationsRNAi

Gene Expression Data

  • This gene is found in these cDNA libraries from the following tissue types:
    b-cell, bone, bone marrow, brain, cartilage, cerebellum, cerebrum, cervix, colon, ear, embryonic tissue, endocrine, esophagus, eye, fetus, gastrointestinal tract, heart, kidney, liver, lung, lymph node, lymphoreticular, mammary gland, muscle, nervous, ovary, pancreas, pancreatic islet, parathyroid, peripheral nervous system, placenta, pooled tissue, prostate, retina, salivary gland, skin, soft tissue, spleen, stem cell, stomach, synovium, t-cell, testis, thyroid, uncharacterized tissue, uterus, vascular
  • SAGE Anatomic Viewer
  • SAGE Digital Northern

  • Monochromatic SAGE/cDNA Virtual Northern

  • Two-dimensional array displays (similar expression pattern in NCI60 microarray data or SAGE data)

Associated Diseases (from OMIM)

DiseaseOther Genes
CHONDROSARCOMA 
EXOSTOSES, MULTIPLE, TYPE 1 

Cytogenetic Location (from UniGene)

Cytogenetic Location:8q24.11Mitelman Breakpoint Data

Chromosomal Position (from UCSC)

Chromosomal Position:8: 118811605 - 119123625

 Exon Info From UCSC:
NM_000127

Full-Length MGC Clones for This Gene

IMAGE IdStatusAccession GenBank Def Line
3502232Full LengthBC001174exostoses (multiple) 1

Protein Similarities Based on Shared Motif Content

Find gene products sharing protein motifs with:  NP_000118  

Protein Infomation

RefSeq
mRNAProteinSwissProtEnzymePfam
NM_000127 NP_000118 Q16394 EC 2.4.1.224
EC 2.4.1.225
Exostosin

Related Sequences

 
mRNAGenPeptSwissProtEnzyme
S79639 AAB62283 Q16394 EC 2.4.1.224
EC 2.4.1.225
BC001174 AAH01174 Q16394 EC 2.4.1.224
EC 2.4.1.225
DQ891868 ABM82794    
DQ895056 ABM85982    
AK313129 BAG35949 Q16394 EC 2.4.1.224
EC 2.4.1.225

Homologs (from HomoloGene)
Note: Both orthologs and paralogs are included.
Organism Symbol Protein Homolog Similarity
(% aa unchanged)
Organism Symbol Entrez
Gene
Gene Info Protein
H.sapiens EXT1 NP_000118 M.musculus Ext1 14042 Gene Info NP_034292 99
R.norvegicus Ext1 299907   XP_216920 99
D.melanogaster ttv 36614   NP_477231 57
A.gambiae AgaP_AGAP010388 1272657   XP_311558 54
C.elegans rib-1 178080   NP_502180 51

Gene Ontology
Gene classification by the European Bioinformatics Institute, as recorded in GOA (GO Annotation@EBI)